🧬New from @poseypod.bsky.social & co! 📄Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families 👉 bit.ly/4wLFW7g

⏰ Only one week left to your abstract or apply for the Next Gen Leadership Awards (travel grant) by July 21 for the AGBT Precision Health Meeting, Sept. 14-16, 2026, in San Diego. Submit your abstract today: hubs.ly/Q04pytFz0 #AGBTPH26 #PrecisionHealth #Genomics

Thrilled to share that our ENCODE enhancer–gene mapping paper is now out in Nature! An encyclopedia of human enhancer–gene regulatory interactions: www.nature.com/articles/s41... Thread 👇 1/

An encyclopedia of human enhancer–gene regulatory interactions - Nature

An encyclopedia of more than 92 million enhancer–gene regulatory interactions created as part of the ENCODE4 project provides a valuable resource for future studies of gene regulation and human geneti...

nature.com

📢 ACC2026 abstract deadline extended! You now have until July 26 at midnight to submit your abstract for the AnVIL Community Conference 2026. Share your work with the AnVIL community this August in Cambridge, MA. Submit: bit.ly/anvil2026-abstract Register: bit.ly/anvil2026-register

Do you want to learn about AnVIL and run your first analysis in the cloud? Join the AnVIL 101 Virtual Workshop on Wednesday, July 29, 2026, from 1–3 PM ET. Get an intro to AnVIL, watch a live demo, and try a guided hands-on analysis. Register: bit.ly/anvil2026-virtual101

Welcome! You are invited to join a meeting: AnVIL 101 Virtual Workshop 2026. After registering, you will receive a confirmation email about joining the meeting.

Welcome! You are invited to join a meeting: AnVIL 101 Virtual Workshop 2026. After registering, you will receive a confirmation email about joining the meeting.

bit.ly

The new publication by members of the Atlas of Variant Effects Clinical Variant Interpretation working group provides guidance for combining data from multiple MAVEs to strengthen the functional evidence for clinical variant classification. Read now: tinyurl.com/yn6bkhhn

Combining multiplexed functional data to improve variant classification - Genome Medicine

Background With the surge in the number of variants of uncertain significance (VUS) reported in ClinVar in recent years, there is an imperative to resolve VUS at scale. Multiplexed assays of variant e...

link.springer.com

FastGxC is a tool for identifying context-specific genetic effects from single-cell and bulk RNA-seq data. By modeling repeated samples from the same individual, it improves detection power and remains robust even with missing data. Explore the tool: github.com/BalliuLab/Fa...

GitHub - BalliuLab/FastGxC

Contribute to BalliuLab/FastGxC development by creating an account on GitHub.

github.com

New on the UCSC Genome Browser: a Non-canonical ORFs track collection for hg38! Explore 1M+ ORFs outside annotated coding genes — uORFs, sORFs & more — from UTRannotator, GENCODE, 5ULTRA, nuORFdb, MetamORF & OpenProt, all colored by Kozak strength. genome.ucsc.edu/gold...

🎤 Meet the ACC2026 keynote speakers! Join Kristin Ardlie, Ph.D. (Broad Institute/GTEx) and Ben Heavner, Ph.D. (University of Washington/GREGoR) at the AnVIL Community Conference, Aug 31–Sept 1 in Cambridge, MA. Learn more: bit.ly/anvil2026

AnVIL Community Conference 2026 - AnVIL Portal

Connect with the AnVIL Community!

bit.ly

📢 Reminder: Registration and abstract submissions for the T2T Face-to-Face 2026 conference close July 1! Join the telomere-to-telomere and pangenomics community Sept. 3–4 at UC Santa Cruz. Abstracts welcome for both talks and posters. Learn more: sites.google.com/ucsc.edu/t2t...

This Wednesday, are you ready to go beyond the VUS and learn more about using multiplexed assays of variant effects (MAVEs) to inform clinical variant classification? It's free to sign up: bit.ly/3Seq0LL #DeepMutationalScanning #VariantScientistNetwork #VUS #MAVE #AtlasOfVariantEffects

GREGoR members Ben Heavner and Heidi Rehm will be presenting on genetic analysis in the cloud at the upcoming AnVIL Community Conference this summer! More information below.

NHGRI AnVIL@anvilproject.org · 2mo ago

🗓 Registration is open for the AnVIL Community Conference 2026! Join us Aug 31–Sept 1 at the Broad Institute in Cambridge, MA, for talks, posters, and workshops on genomic data science and cloud computing. Register: bit.ly/anvil2026-register Learn more: bit.ly/anvil2026

MAVEs are transforming how labs evaluate genetic variants, providing functional evidence at scale. Join Dr Abbye McEwen for an introduction to MAVEs and to learn how these datasets may help resolve variants of uncertain significance. Register free: bit.ly/3Seq0LL #AtlasOfVariantEffects

What if understanding the genome requires hearing the whole orchestra, not just a single instrument? A study led by @claucarvalho.bsky.social combines multiple layers of genomic data to uncover disease-causing variants that standard methods can miss. Read more: bit.ly/4nVblkx #raredisease

Join GREGoR member Hector Mendez on June 10th, 12 pm ET, as he gives an overview of RNUopathies and the emerging class of splicing disorders. 🔗Register at: learning.ashg.org/products/rnu...

American Society of Human Genetics (ASHG)@geneticssociety.bsky.social · 3mo ago

2 dates. 2 expert sessions. 1 smart move—register for both! May 27: Industry Pathways in Genetics and Genomic Science (co-hosted w/ @eshg.bsky.social) June 10: RNUopathies: A New Frontier in Genetics (Journal Club w/ @hggadvances.bsky.social) 👉 Join us: https://learning.ashg.org/ #ASHG

The GREGoR Consortium preprint "Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset" is now live on bioRxiv!

📊 Spread the word about your tool or highlight your research results with other scientists doing genomics in the cloud! Submit an abstract today for a poster or talk at the AnVIL Community Conference 2026! Deadline is July 15: bit.ly/anvil2026-abstract Learn more: bit.ly/anvil2026

AnVIL Community Conference 2026: Abstract Submission Form

Please use this form to submit an abstract (300 word limit) to the AnVIL Community Conference 2026 in Cambridge, MA. The conference will take place from August 31 - September 1, 2026. In-person attend...

bit.ly

🗓 Join us at #ACC26 on 8/31 - 9/1, 2026, at the Broad Institute of MIT & Harvard in Cambridge, MA. Keynote speakers, invited talks, poster sessions, and collaborative workshops await! Register: bit.ly/regsiteranvil26 Get updates: lists.anvilproject.org/lists/acc202... Learn more: bit.ly/anvil2026

What’s one of the biggest challenges in genomics today? Lea Starita explains how variants of uncertain significance limit genetic medicine, and how IGVF is working to solve it using functional data and predictive models. ▶️ youtu.be/yEjEeIIkj9Q

What are the key problems in the field that IGVF is addressing?

YouTube video by Impact of Genomic Variation on Function

youtu.be

We are excited to share our gnomAD v4.1.1 release gnomad.broadinstitute.org/news/2026-03... Major changes: * Constraint scores on X and Y * Improved coverage correction * LOFTEE fix * Guidance on constraint cut-offs * New quality flag for low coverage/mappability genes @gnomad-project.bsky.social

This Rare Disease Day 🧬, we share how GREGoR 🫛 bridges the diagnostic gap in rare disease by developing and applying cutting-edge technologies to discover the causes of unsolved genetic disorders and sharing data to accelerate discovery. 🎯 #GREGoR #NIHResearch #RareDisease

UW's Genetic Analysis Center @uwsph.bsky.social plays a key role in efforts aimed at discovering the cause of currently unexplained rare genetic diseases through its work as the Data Coordinating Center for the (GREGoR) Consortium @gregor-research.bsky.social - More: bit.ly/3M5f8NS

Spotlight on the Genetic Analysis Center (GAC) at the University of Washington and its role as the GREGoR Data Coordinating Center (DCC). @uwbiostat.bsky.social @uwsph.bsky.social

See how translating findings from animal research to human health provides much-needed answers for families whose children had gone undiagnosed. D. Calame and @jesse-levine.bsky.social @bcmhouston.bsky.social @gregor-research.bsky.social @ajhgnews.bsky.social nationaltoday.com/us/tx/housto...

New coverage in The Scientist highlights Dudley Lab research showing that two damaging variants don’t always make disease worse — in many cases, they restore protein function. These findings could reshape how #genetic risk is interpreted, especially for #raredisease. Read more at: bit.ly/4rdvgfm

Years of research with animal models led to answers to families with a child with undiagnosed conditions. D. Calame and @jesse-levine.bsky.social. blogs.bcm.edu/2026/02/10/f... @bcmhouston.bsky.social @gregor-research.bsky.social @ajhgnews.bsky.social #HumanGenetics #TexasChildrens

From lab bench to bedside – research in mice leads to answers for undiagnosed human neurodevelopmental conditions

The findings have provided answers to families that until now had no diagnosis for their child's condition.

blogs.bcm.edu

Spotlight on GREGoR's ongoing efforts to "transform the diagnosis of rare diseases from a long shot into a manageable, evidence-driven process for families worldwide"! www.fredhutch.org/content/www/...

From Data to Diagnosis: GREGoR aims to demystify rare diseases

An update on the work of the GREGoR Consortium, whose mission is to guide the rare disease community toward finding genetic diagnoses.

fredhutch.org

We’re excited to confirm Fritz Sedlazeck as our first speaker for #nanoporeconf! His research confronts genomic inequity, identifying novel variants that could influence disease risk, gene regulation and healthcare in Hispanic populations. https://bit.ly/4sOxMKd

Coming up! with Yuriy Baglaenko @baglaenkolab.bsky.social and Stephan Riesenberg @mpi-eva-leipzig.bsky.social Details ℹ️ ➡️ www.varianteffect.org/seminar-seri...